Details for Combination OLI154

VARIANTS COL4A3:c.3829G>A, p.Gly1277Ser in Heterozygous form; COL4A4:c.931-2A>G, in Heterozygous form
GENE COMBINATION COL4A3; COL4A4
OLIGOGENIC EFFECT True Digenic
ETHNICITY European/Caucasian
OMIM IDS 104200; 301050; 203780
DISEASES Alport syndrome
REFERENCES 27859054
SCORES
FAMmanual
1

STAT
manualknowledgemeta
000

GENE
manualmanual harmonizedknowledgemeta
2202

VAR
manualknowledgemeta
111

FUN
manualmeta
22

FINAL
manualmeta
11


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